Cristina Santos

Cristina Santos
Autonomous University of Barcelona | UAB · Department of Animal Biology, Vegetal Biology and Ecology

PhD

About

94
Publications
19,525
Reads
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1,320
Citations
Additional affiliations
September 2013 - present
Universitat Autònoma de Barcelona
Position
  • Pofessor "Agregado" Universitat Autònoma de Barcelona
September 2007 - September 2013
Autonomous University of Barcelona
Position
  • Professor "Lector" Universitat Autònoma de Barcelona
July 2005 - September 2007
University of the Azores
Position
  • PostDoc Position

Publications

Publications (94)
Article
Full-text available
Background The purpose of this study is to describe measurements using a newly developed modified Goldmann convex tonometer (CT) 1 year after myopic laser refractive surgery. Intraocular pressure (IOP) measurements were compared with IOP values obtained by Goldmann applanation tonometer (GAT), and Ocular Response Analyzer (ORA). Methods Prospectiv...
Article
Full-text available
The Generalitat de Catalunya between 2006 and 2016 commisioned the excavation of a series of mass graves from the Spanish Civil War and subsequent Franco dictatorship to identify the victims. The final step of this process consisted of genetic analyses to both ascertain or confirm the identifications of the victims. In spite of the fact that certai...
Article
The presence of different sets of mitochondrial polymorphisms generated by the accumulation of mutations in different maternal lineages has allowed differentiating mitochondrial haplogroups in human populations. These polymorphisms, in turn, may have effects at the phenotypic level, considering a possible contribution of these germinal mutations to...
Book
Full-text available
L’any 2016 es va posar al descobert una cista intacta al Camp de la Bruna, a Lladurs (el Solsonès), a causa d’uns treballs agrícoles. Aleshores, el Servei d’Arqueologia i Paleontologia va decidir realitzar una excavació d’urgència per tal de documentar-la, intervenció que va proporcionar uns interessants resultats d’una cista del neolític mitjà-rec...
Article
Retrieving DNA from highly-degraded human skeletal remains is still a challenge due to low concentration and fragmentation which makes it difficult to extract and purify. Recent works showed that silica-based methods allow better DNA recovery and this fact may be attributed to the type of bones and the quality of the preserved tissue. However, more...
Article
Purpose To assess correlation between results from both eyes of the same patient after implantation of intrastromal corneal ring segments (ICRS) and define whether they can be used together in clinical studies. Methods A review of medical records of 74 patients with keratoconus implanted with bilateral Ferrara ICRS at Centro de Oftalmología Barraq...
Article
Full-text available
This study assesses the agreement between intraocular pressure (IOP) measurements taken with the Goldmann applanation tonometer (GAT) and a new experimental applanation tonometer with a convexly shaped apex (CT) after laser myopic refractive surgery. Two different CT radii (CT1 and CT2) were designed with a finite element analyser, and a prospectiv...
Article
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that appears in at least one-third of adult carriers of FMR1 premutation. Several studies have shown that mitochondrial dysfunction may play a role in neurodegenerative disorders. In order to assess whether mitochondrial DNA variants are involved in the r...
Article
Full-text available
Recent studies associated certain type of cardiovascular disease (CVD) with specific mitochondrial DNA (mtDNA) defects, mainly driven by the central role of mitochondria in cellular metabolism. Considering the importance of the control region (CR) on the regulation of the mtDNA gene expression, the aim of the present study was to investigate the ro...
Article
At the end of 2016 and under the initiative and funding of the “Direcció General de Memòria democràtica- Departament de Justícia” (Generalitat of Catalonia), it was decided to recover and identify the remains of people disappeared in Catalonia during and after the Spanish Civil War (1936–1939). Anthropology, archaeology, history and genetics are pa...
Article
Although the use of Next Generation Sequencing (NGS) in mitochondrial DNA (mtDNA) studies related to forensic and human genetics has contributed to the report of heteroplasmy at very low levels (lower than 1% and even 0.5%), their detection is not a straightforward process. Our purpose is to establish mitochondrial heteroplasmy detection limits, ge...
Article
Full-text available
Molecular alterations reflecting pathophysiologic changes thought to occur many years before the clinical onset of Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3), a late-onset polyglutamine disorder, remain unidentified. The absence of molecular biomarkers hampers clinical trials, which lack sensitive measures of disease progress...
Article
Objective The aim of this study was to analyze the infant burials found inside Iberian homes in relation to a possible case of sex selection. Methods The study included the remains of 11 infant individuals buried under the 10 houses excavated in the late Iberian village of Camp de les Lloses (Tona, Barcelona, Spain). Sex was determined using genet...
Article
Background Mitochondrial dysfunction has been implicated in the pathogenesis of several neurodegenerative disorders, namely of Machado‐Joseph disease, an autosomal dominant late‐onset polyglutamine ataxia that results from an unstable expansion of a CAG tract in the ATXN3 gene. The size of the CAG tract only partially explains age at onset, highlig...
Preprint
Full-text available
Recent studies associated certain type of cardiovascular disease (CVD) with specific mitochondrial DNA (mtDNA) defects, mainly driven by the central role of mitochondria in cellular metabolism. Considering the importance of the control region (CR) on the regulation of the mtDNA gene expression, the aim of the present study was to investigate the ro...
Article
Lewy body diseases (LBD) include Parkinson's disease (PD) and dementia with Lewy bodies (DLB) and together with Alzheimer's disease (AD) they show an important neuropathological and clinical overlap. The human alpha- and beta-synuclein genes (SNCA and SNCB) are key factors for the development of Lewy body diseases. Here, we aimed to analyze the gen...
Article
Full-text available
Literature on timing of rib trauma is scarce but remains challenging during forensic cases. This study analysed the macroscopic fracture patterns of perimortem rib fractures and compared them to experimentally reproduced rib fractures on fresh and dry ribs. Six distinctive macroscopic traits were found in ribs that might provide information about t...
Preprint
Full-text available
With the “mitochondrial Eve” theory proposed by Rebecca Cann in the eighties, human mitochondrial DNA (mtDNA) has been used as a tool in studying human variation and evolution. Although the existence of recombination in human mtDNA has been previously advocated, studies dealing with human variation and evolution have assumed that human mtDNA does n...
Article
There are strong evidences that common mitochondrial DNA (mtDNA) haplogroups may influence the pathogenesis of cardiovascular diseases (CVDs). In this matched case-control study, we investigate the association between mtDNA haplogroups and two CVDs, myocardial infarction (MI) and stroke, and classical cardiovascular risk factors. Data obtained show...
Poster
Full-text available
Background: Parkinson's disease (PD) and dementia with Lewy bodies (DLB) are Lewy body diseases characterized by similar pathological features. Several studies have shown a relation between alterations in the glucocerebrosidase gene (GBA) and the development of LB diseases. Here, we explored the role of GBA mutations in Spanish DLB patients. Meth...
Article
The polyglutamine spinocerebellar ataxias (SCAs) constitute a clinically and genetically heterogeneous group of rare late-onset neurodegenerative disorders, caused by CAG expansions in the coding region of the respective genes. Given their considerable clinical overlapping, differential diagnosis relies on molecular testing. Laboratory best practic...
Article
Objectives To provide new clues about the genetic origin, composition and structure of the population of the Spanish province of Zamora, with an emphasis on the genetic impact of the period of Islamic rule in the Iberian Peninsula.Methods Polymorphisms in the paternally inherited Y-chromosome, Single Nucleotide Polymorphisms and Short Tandem Repeat...
Article
Full-text available
Mitochondrial dysfunction has been associated with late onset neurodegenerative disorders, among which is Machado-Joseph disease (MJD/SCA3). In a previous study, using a transgenic mouse model of MJD, we reported a decrease in mitochondrial DNA (mtDNA) copy number and an accumulation of the 3876-bp deletion with age and with phenotype development....
Article
The main goal of this study is to increase knowledge on the molecular level of the ABO blood group system in Europe by providing data for Poland, Spain, and Andorra populations. A total of 172 oral scrapings samples from individuals of Polish origin, 108 peripheral blood samples of autochthonous individuals from the province of Zamora (Spain), and...
Article
The aim of this study is to analyze mitochondrial DNA and Y-chromosome lineages in a range of Atlantic and Mediterranean populations of the Iberian Peninsula in search of genetic differences between both façades and to uncover the most probable geographic origin and coalescence ages of lineages. The control region of mitochondrial DNA and haplogrou...
Article
Full-text available
Objetivo: Las enfermedades cardiovasculares (ECV) son la principal causa de muerte y altas hospitalarias en nuestro país. El objetivo de este estudio es describir la mortalidad y la morbilidad hospitalaria para las enfermedades del sistema circulatorio de mayor relevancia, en las diferentes comunidades autónomas de España en el periodo de 1999 a 20...
Article
Full-text available
A significant body of work, accumulated over the years, strongly suggests that damage in mitochondrial DNA (mtDNA) contributes to aging in humans. Contradictory results, however, are reported in the literature, with some studies failing to provide support to this hypothesis. With the purpose of further understanding the aging process, several model...
Article
Full-text available
Determining the levels of human mitochondrial heteroplasmy is of utmost importance in several fields. In spite of this, there are currently few published works that have focused on this issue. In order to increase the knowledge of mitochondrial DNA (mtDNA) heteroplasmy, the main goal of this work is to investigate the frequency and the mutational s...
Article
Full-text available
The correct detection of mitochondrial DNA (mtDNA) heteroplasmy by automated sequencing presents methodological constraints. The main goals of this study are to investigate the effect of sense and distance of primers in heteroplasmy detection and to test if there are differences in the accurate determination of heteroplasmy involving transitions or...
Article
Full-text available
A recent discovery of Iron Age burials (Pazyryk culture) in the Altai Mountains of Mongolia may shed light on the mode and tempo of the generation of the current genetic east-west population admixture in Central Asia. Studies on ancient mitochondrial DNA of this region suggest that the Altai Mountains played the role of a geographical barrier betwe...
Data
Description of primers used and their references. (DOCX)
Data
Ancient and current populations used in comparative analysis. References corresponds to reference number in the manuscript. (DOC)
Article
Full-text available
Machado-Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)(n) expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of onset variance, the remaining variation being dependent on other factors. Differential allelic expre...
Article
Objective: To investigate a modulating effect of the apolipoprotein E (APOE) polymorphism on age at onset of Machado-Joseph disease (MJD). Design: We collected blood samples from 192 patients with MJD and typed the APOE polymorphism. Patients: The 192 patients with MJD included 59 from the Azores, 73 from mainland Portugal, and 60 from Brazil. Sett...
Article
Full-text available
To investigate a modulating effect of the apolipoprotein E (APOE) polymorphism on age at onset of Machado-Joseph disease (MJD). We collected blood samples from 192 patients with MJD and typed the APOE polymorphism. Patients The 192 patients with MJD included 59 from the Azores, 73 from mainland Portugal, and 60 from Brazil. Academic research center...
Article
Full-text available
Ancient populations have commonly been thought to have lived in small groups where extreme endogamy was the norm. To contribute to this debate, a genetic analysis has been carried out on a collective burial with eight primary inhumations from Montanissell Cave in the Catalan pre-Pyrenees. Radiocarbon dating clearly placed the burial in the Bronze A...
Article
Full-text available
Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. This disease presents clinical heterogeneity, which cannot be completely explained by the size of the repeat tract. MJD presents e...
Conference Paper
Full-text available
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of adulthood (~40 years). Its causative mutation consists in an expan-sion of a (CAG)n tract in the coding region of the ATXN3gene (14q32.1), which encodes for ataxin-3. The inverse correlation between the number of CAG repeats in the expanded alleles and the age at on...
Article
Nuclear insertions of mitochondrial origin (NUMTs) can be useful tools in evolution and population studies. However, due to their similarity to mitochondrial DNA (mtDNA), NUMTs may also be a source of contamination in mtDNA studies. The main goal of this work is to present a database of NUMTs, based on the latest version of the human genome-GRCh37...
Article
Full-text available
A new human genome reference sequence--GRCh37--was recently generated and made available by the Genome Reference Consortium. Since the prior disposable human reference sequence--hg18--was previously used for the mitochondrial DNA primer BLAST validation, a revision of those previously published primer pairs is required. Thus, the aim of this Short...
Article
Full-text available
Atherosclerosis-a major cause of vascular disease, including ischemic heart disease (IHD), is a pathology that has a two-fold higher mortality rate in the Azorean Islands compared to mainland Portugal. This cross-sectional study investigated the role of genetic variation in the prevalence of atherosclerosis in this population. A total of 305 indivi...
Article
Lewy body diseases include dementia with Lewy bodies and Parkinson's disease. Whereas dementia with Lewy bodies and Parkinson's disease can be distinguished as separate clinical entities, the pathological picture is very often identical. alpha-synuclein aggregation is a key event in the pathogenesis of Lewy body diseases and beta-synuclein inhibits...
Article
Located in the north-western extreme of the Iberian northern plateau with the Portugal border on the west, Zamora province is one of the current divisions of the autonomous region of Castile-Leon (Spain). According to natural boundaries and historical records, the province of Zamora can be subdivided into six different regions: Aliste, Benavente, B...
Article
Full-text available
Lewy body diseases include dementia with Lewy bodies and Parkinson's disease. Whereas dementia with Lewy bodies and Parkinson's disease can be distinguished as separate clinical entities, the pathological picture is very often identical. α-synuclein aggregation is a key event in the pathogenesis of Lewy body diseases and β-synuclein inhibits α-synu...
Article
Full-text available
Several studies have shown the importance of recent events in the configuration of the genetic landscape of a specific territory. In this context, due to the phenomena of repopulation and demographic fluctuations that took place in recent centuries, the Iberian Northern plateau is a very interesting case study. The main aim of this work is to check...
Article
Full-text available
The Azores archipelago (Portugal), located in the Atlantic Ocean, 1,500 km from the European mainland, is formed by nine islands of volcanic origin. The relative position of these islands allows the definition of three geographical groups: Eastern, Central and Western. Previous studies of the Azores using Short Tandem Repeats (STRs) have highlighte...
Article
Macaronesia covers four Atlantic archipelagos: the Azores, Madeira, the Canary Islands, and the Cape Verde islands. When discovered by Europeans in the 15th century, only the Canaries were inhabited. Historical reports highlight the impact of Iberians on settlement in Macaronesia. Although important differences in their settlement are documented, i...
Article
Full-text available
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset (occurring at a mean age of 40.2 years). The clinical manifestation of MJD is dependent on the presence of an expansion of the (CAG)(n) motif within exon 10 of the ATXN3 gene, located at 14q32.1. The variance in onset of MJD is only partially correlated (...
Article
Full-text available
Machado-Joseph disease (MJD) is a late-onset neurodegenerative disorder that presents clinical heterogeneity not completely explained by its causative mutation. MJD is caused by an expansion of a CAG tract at exon 10 of the ATXN3 gene (14q32.1), which encodes for ataxin-3. The main goal of this study was to analyze the occurrence of alternative spl...
Article
Population of Pedroches Valley, a hypothetical Berber settlement, located in the northwest portion of Córdoba province (Andalusia, Spain), had been analyzed for its Y-chromosome diversity. Moreover, to contextualize this population, 127 Y-chromosomes from a general Andalusia sample and a North African Berber community (Marrakech, Morocco) were also...
Article
To date, there are no published primers to amplify the entire mitochondrial DNA (mtDNA) that completely prevent the amplification of nuclear DNA (nDNA) sequences of mitochondrial origin. The main goal of this work was to design, validate and describe a set of primers, to specifically amplify and sequence the complete human mtDNA, allowing the corre...
Article
The populations from the Azores islands have been the target of several genetic studies, using data derived from monoparental and recombining genetic systems. These studies have provided a complex picture of the genetic landscape of the three groups of Azorean islands, and further data are required to assess its genetic profile. We present a study...
Article
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is considered the most common form of SCA worldwide. The main goal of this study was to investigate the presence of segregation ratio distortion (SRD) during transmissions of ATXN3 alleles by MJD...
Article
Full-text available
In this work, we present the results of the screening of human mitochondrial DNA (mtDNA) heteroplasmy in the control region of mtDNA from 210 unrelated Spanish individuals. Both hypervariable regions of mtDNA were amplified and sequenced in order to identify and quantify point and length heteroplasmy. Of the 210 individuals analyzed, 30% were fully...
Article
The Azores archipelago (Portugal) is formed by nine islands whose relative positions define them as three geographical groups: Eastern (S. Miguel and Sta. Maria), Central (Terceira, Faial, Pico, Graciosa and S. Jorge) and Western (Flores and Corvo). Using the father's surname of 187,398 individuals living on the nine Azorean Islands, a population a...
Article
Full-text available
Human mitochondrial DNA (mtDNA) has been extensively used in population and evolutionary genetics studies. Thus, a valid estimate of human mtDNA evolutionary rate is important in many research fields. The small number of estimations performed for the coding region of the molecule, showed important differences between phylogenetic and empirical appr...